Article
Aortic and arterial manifestations and clinical features in TGFB3-related heritable thoracic aortic disease: results from the Montalcino Aortic Consortium.
Journal of medical genetics - 27 Jan 2025
Lim Michelle Su-Anne, Guo Dong-Chuan, Velasco Torrez Walter, Lai Andrew, Schweber Jonathan, Garg Nikita, Fleischer Julie, Boileau Catherine, De Backer Julie, Evangelista Artur, Jondeau Guillaume, Le Goff Carine, Milleron Olivier, Muiño-Mosquera Laura, Morris Shaine, Ouzounian Maral, Cervi Elena, Marcadier Julien, Caffarelli Anthony, Shalhub Sherene, Pyeritz Reed, Yetman Angela, Milewicz Dianna, Braverman Alan C
Abstract excerpt
BACKGROUND: Pathogenic variants in TGFB3 may lead to a syndromic genetic aortopathy. Heritable thoracic aortic disease (HTAD) and arterial events may occur in TGFB3-related disease but there are limited outcomes data on vascular events in this condition. METHODS: Clinical data, phenotypical features and aortic outcomes in individuals with pathogenic/likely pathogenic (P/LP) TGFB3 variants enrolled in the...
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